Preimplantation genetic diagnosis guided by single-cell genomics

Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts1

(2013) XuYang Yin et al.   BIOLOGY OF REPRODUCTION

Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease

(2013) Nathan R. Treff et al.   FERTILITY AND STERILITY

Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases

(2013) L.-J. Chang et al.   HUMAN REPRODUCTION

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

(2013) Suzanne C E H Sallevelt et al.   JOURNAL OF MEDICAL GENETICS

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

(2013) Thierry Voet et al.   NUCLEIC ACIDS RESEARCH

Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains

(2013) Niels Van der Aa et al.   NUCLEIC ACIDS RESEARCH

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

(2012) Xun Xu et al.   CELL

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

(2012) Yong Hou et al.   CELL

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

(2012) Chris MJ van Uum et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Four-hour quantitative real-time polymerase chain reaction–based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficacy

(2012) Nathan R. Treff et al.   FERTILITY AND STERILITY

ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009

(2012) V. Goossens et al.   HUMAN REPRODUCTION

The ESHRE PGD Consortium: 10 years of data collection

(2012) J.C. Harper et al.   HUMAN REPRODUCTION UPDATE

Genome-wide copy number analysis of single cells

(2012) Timour Baslan et al.   Nature Protocols

Microarray analysis of copy number variation in single cells

(2012) Peter Konings et al.   Nature Protocols

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

(2012) Weimin Bi et al.   PRENATAL DIAGNOSIS

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

(2012) C. Zong et al.   SCIENCE

New Perspectives on Embryo Biopsy: Not How, But When and Why?

(2012) Kangpu Xu et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Vitrified-warmed blastocyst transfer cycles yield higher pregnancy and implantation rates compared with fresh blastocyst transfer cycles—time for a new embryo transfer strategy?

(2011) Dandan Zhu et al.   FERTILITY AND STERILITY

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

(2011) Thierry Voet et al.   HUMAN MUTATION

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

(2011) E. Vanneste et al.   HUMAN REPRODUCTION

First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis

(2011) S. Alfarawati et al.   HUMAN REPRODUCTION

PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

(2011) F. Fiorentino et al.   HUMAN REPRODUCTION

Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results

(2011) J. Geraedts et al.   HUMAN REPRODUCTION

Preimplantation genetic screening: a systematic review and meta-analysis of RCTs

(2011) S. Mastenbroek et al.   HUMAN REPRODUCTION UPDATE

Polar body-based preimplantation genetic diagnosis for Mendelian disorders

(2011) A. Kuliev et al.   MOLECULAR HUMAN REPRODUCTION

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Direct, genome-wide assessment of DNA mutations in single cells

(2011) Michael Gundry et al.   NUCLEIC ACIDS RESEARCH

Single-cell copy number variation detection

(2011) Jiqiu Cheng et al.   GENOME BIOLOGY

Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations

(2010) Francesco Fiorentino et al.   FERTILITY AND STERILITY

Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays

(2010) Nathan R. Treff et al.   FERTILITY AND STERILITY

Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos

(2010) Nathan R. Treff et al.   FERTILITY AND STERILITY

What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee 

(2010) J. Harper et al.   HUMAN REPRODUCTION

Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

(2010) D.S. Johnson et al.   HUMAN REPRODUCTION

ESHRE PGD consortium best practice guidelines for amplification-based PGD

(2010) G. L. Harton et al.   HUMAN REPRODUCTION

SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH

(2010) N. R. Treff et al.   MOLECULAR HUMAN REPRODUCTION

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

(2010) Nathan R. Treff et al.   MOLECULAR HUMAN REPRODUCTION

Preimplantation genetic diagnosis at 20 years

(2010) Joe Leigh Simpson   PRENATAL DIAGNOSIS

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

(2009) E. Vanneste et al.   HUMAN REPRODUCTION

Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes

(2009) A. H. Handyside et al.   JOURNAL OF MEDICAL GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays

(2009) Jochen B. Geigl et al.   NUCLEIC ACIDS RESEARCH

Successful application of preimplantation genetic diagnosis for Leigh syndrome

(2008) Evrim Ünsal et al.   FERTILITY AND STERILITY

Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations

(2008) S. J. McArthur et al.   PRENATAL DIAGNOSIS